E Pijkels

Dosage-Dependent Severity of the Phenotype in Patients with Mental Retardation Due to a Recurrent Copy-Number Gain at Xq28 Mediated by an Unusual Recombination

Joke Vandewalle, Hilde Van Esch, Karen Govaerts et al. · The American Journal of Human Genetics · 2009 · 88 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

A study of the cognitive and psychological profile in 16 children with congenital or juvenile myotonic dystrophy

Jean Steyaert, Susan Umans, D Willekens et al. · Clinical Genetics · 1997 · 72 citations

Medicine, Psychiatry, Psychology +15

Cri du chat syndrome: Changing phenotype in older patients

G.J.C.M. van Buggenhout, E Pijkels, Maureen Holvoet et al. · American Journal of Medical Genetics · 2000 · 70 citations

Medicine, Pediatrics, Craniofacial Growth +12

Congenital diaphragmatic hernia is part of the new 15q24 microdeletion syndrome

Hilde Van Esch, Liesbeth Backx, E Pijkels et al. · European Journal of Medical Genetics · 2009 · 43 citations

Medicine, Genetics, Surgery +4

Novel GJA1 mutations in patients with oculo-dento-digital dysplasia (ODDD)

Ph. Debeer, Hilde Van Esch, C. Huysmans et al. · European Journal of Medical Genetics · 2005 · 42 citations

Dentistry, Oral Biology, Oral Pathology +5